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1
المؤلفون: Sari Alon, Gustavo Maegawa, Simeon Boyd, Mohamed G. Atta, Myrl Holida, Robert B. Colvin, Ozlem Goker-Alpan, Kathy Nicholls, Ahmad Tuffaha, Derlis Gonzales, Derralynn Hughes, J. Charles Jennette, Pilar Giraldo, Mali Szlaifer, Raul Chertkoff, Einat Brill-Almon, Raphael Schiffmann, Laura Barisoni
المصدر: Molecular Genetics and Metabolism. 129:S76-S77
مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Chemistry, Endocrinology, Diabetes and Metabolism, Lyso gb3, medicine.disease, Biochemistry, Fabry disease, Endocrinology, α galactosidase a, Enzyme, Internal medicine, Genetics, medicine, Molecular Biology
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2
المؤلفون: Michael Buckley, William Lo, Michael Gattas, Michael T. Gabbett, Mathew Wallis, David J. Amor, Fiona Haslam McKenzie, Felicity Collins, Nerine Gregersen, Kate Gibson, Simeon Boyd, Mary Louise Freckmann, Carol Ann Verrenkamp, Mark P. Gianoutsos, Eric Lee, Wanda Lattanzi, Ying Zhu, David Mowat, Tony Roscioli, Ravi Savarirayan, Zornitza Stark, Eric Haan, Tiong Yang Tan, Janine Smith, Maya Chopra, Ian Hayes, Trang T. Le, Sulekha Rajagopalan, Timothy C. Cox, George Elakis, Edwin P. Kirk, Anne M. Turner, Natasha J Brown, Nicole Snow, Hanka Venselaar, Alison Yeung, Rani Sachdev, Christopher P. Barnett, Lesley C. Adès
المصدر: Genetics in Medicine, 20, 1061-1068
Genetics in Medicine, 20, 9, pp. 1061-1068مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Fibroblast Growth Factor, Cohort Studies, Basic Helix-Loop-Helix Transcription Factors, coronal, Settore BIO/13 - BIOLOGIA APPLICATA, Prospective Studies, panel, Exome, Genetics (clinical), Coronal craniosynostosis, Massive parallel sequencing, medicine.diagnostic_test, craniosynostosis, EFNB1, TCF12, Australia, Cranial Sutures, Craniosynostoses, DNA-Binding Proteins, Ephrin-B1, Female, Fibroblast Growth Factor 10, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, New Zealand, Nuclear Proteins, Receptor, Fibroblast Growth Factor, Type 1, Repressor Proteins, Retrospective Studies, Transcription Factors, Twist-Related Protein 1, Receptor, Type 1, Cohort study, medicine.medical_specialty, Craniosynostosis, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Genetic testing, business.industry, Retrospective cohort study, medicine.disease, 030104 developmental biology, business, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]
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3
المؤلفون: Mohamed G. Atta, Myrl Holida, Simeon Boyd, Raul Chertkoff, Gustavo Maegawa, Kathy Nicholls, Ozlem Goker-Alpan, Martha R. Charney, David G. Warnock, Derlis E. Gonzalez, Raphael Schiffmann, Derralynn Hughes, Einat Brill-Almon, Ahmad Tuffaha, Pilar Giraldo, Sari Alon
المصدر: Molecular Genetics and Metabolism. 120:S137-S138
مصطلحات موضوعية: 0301 basic medicine, business.industry, Endocrinology, Diabetes and Metabolism, Immunogenicity, 030105 genetics & heredity, medicine.disease, Biochemistry, Fabry disease, Virology, 03 medical and health sciences, Endocrinology, Phase (matter), Genetics, medicine, business, Molecular Biology
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4
المؤلفون: Raul Chertkoff, Mohamed G. Atta, Myrl Holida, Robert B. Colvin, Kathy Nicholls, Laura Barisoni, Jenny Krupko, Simeon Boyd, Ozlem Goker-Alpan, Einat Brill-Almon, Mali Szlaifer, Gustavo Maegawa, J. Charles Jannette, Ahmad Tuffaha, Pilar Giraldo, Derralynn Hughes, Raphael Schiffmann, Derlis E. Gonzalez
المصدر: Molecular Genetics and Metabolism. 120:S68
مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, One year follow up, business.industry, Endocrinology, Diabetes and Metabolism, Alpha (ethology), Pharmacology, medicine.disease, Biochemistry, Fabry disease, Gastroenterology, Endocrinology, Enzyme, chemistry, Internal medicine, Genetics, Medicine, business, Molecular Biology
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5
المؤلفون: Raphael Schiffmann, Jeannie Visootsak, Ahmad Tuffaha, Pilar Giraldo, Sari Alon, J. Charles Jannette, Einat Brill-Almon, Myrl Holida, Raul Chertkoff, Mohamed G. Atta, Mali Szlaifer, Laura Barisoni, Robert B. Colvin, Derlis E. Gonzalez, Simeon Boyd, Gustavo Megawa, Derralynn Hughes, Kathy Nicholls, Jenny Krupko, Ozlem Goker-Alpan
المصدر: Molecular Genetics and Metabolism. 117:S59
مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, business.industry, Endocrinology, Diabetes and Metabolism, Alpha (ethology), 030105 genetics & heredity, Pharmacology, medicine.disease, Biochemistry, Fabry disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Enzyme, chemistry, Genetics, Medicine, business, Molecular Biology, Interim report, 030217 neurology & neurosurgery
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6
المؤلفون: Anthony G. Quinn, Sandra Rojas-Caro, Chris Twelves, Reena Sharma, Stephen Eckert, Chris Bourdon, Bruce Kessler, Chester B. Whitley, Vassili Valayannopoulos, Simeon Boyd, Věra Malinová
المصدر: Molecular Genetics and Metabolism. 114:S99
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Lysosomal acid lipase deficiency, medicine.disease, Biochemistry, Endocrinology, Sebelipase alfa, Internal medicine, Genetics, medicine, business, Molecular Biology
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7
المؤلفون: Justin T. Wahlstrom, Christopher C. Dvorak, Morton J. Cowan, Mara Bailey-Olson, Simeon Boyd, Biljana Horn, Liga Bivina
المصدر: Molecular Genetics and Metabolism. 111:S27
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Umbilical Cord Blood Transplantation, Idursulfase, business.industry, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Hunter syndrome, Hematopoietic stem cell transplantation, Enzyme replacement therapy, medicine.disease, Biochemistry, Endocrinology, Genetics, medicine, Mucopolysaccharidosis type II, Hurler syndrome, business, Molecular Biology, Progressive disease, medicine.drug
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8
المؤلفون: Bruce Kessler, Patrick Deegan, Jennifer Burg, Reena Sharma, Eveline O. Stock, Věra Malinová, Manisha Balwani, Radhika Tripuraneni, John P. Kane, Vassili Valayannopoulos, Catherine Breen, Tomas Honzik, Simeon Boyd, Chris Bourdon, Greg Enns, Chet R. Whitley, Eugene Schneider, Anthony G. Quinn
المصدر: Journal of Clinical Lipidology. 7:286
مصطلحات موضوعية: Nutrition and Dietetics, Cholesteryl ester storage disease, business.industry, Endocrinology, Diabetes and Metabolism, Internal Medicine, medicine, In patient, Cardiology and Cardiovascular Medicine, medicine.disease, business, Humanities, Dyslipidemia